HL7 Czech DIGOVO Implementation Guide
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HL7 Czech DIGOVO Implementation Guide, published by HL7 Czech Republic. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7-cz/DIGOVO/ and changes regularly. See the Directory of published versions

: HGVS kódování genetických variant (DIGOVO) - TTL Representation

Active as of 2025-11-08

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "vs-hgvs-code-cz"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet vs-hgvs-code-cz</b></p><a name=\"vs-hgvs-code-cz\"> </a><a name=\"hcvs-hgvs-code-cz\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include all codes defined in <a href=\"http://terminology.hl7.org/6.5.0/CodeSystem-v3-hgvs.html\"><code>http://varnomen.hgvs.org</code></a><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.ncbi.nlm.nih.gov/clinvar</code><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <code>https://www.omim.org</code><span title=\"Version is not explicity stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span></li></ul></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:url [
fhir:v "https://hl7.cz/fhir/DIGOVO/ValueSet/vs-hgvs-code-cz"^^xsd:anyURI ;
fhir:l <https://hl7.cz/fhir/DIGOVO/ValueSet/vs-hgvs-code-cz>
  ] ; # 
  fhir:version [ fhir:v "0.0.1"] ; # 
  fhir:name [ fhir:v "VsHgvsCodeCz"] ; # 
  fhir:title [ fhir:v "HGVS kódování genetických variant (DIGOVO)"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-11-08T23:36:31+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 Czech Republic"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 Czech Republic" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.hl7.cz/" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Soubor kódů pro popis genetických variant dle standardu HGVS (Human Genome Variation Society).\nPoužívá se v rámci profilu CZ_Observation_Genotype jako hodnota (`valueCodeableConcept`).\nHodnoty odpovídají záznamům genetických variant, např. c.76A>T, p.Glu6Val.\nZdrojem dat jsou HGVS zápisy, OMIM, ClinVar nebo interní registr variant."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166>       ] ;
fhir:code [ fhir:v "CZ" ] ;
fhir:display [ fhir:v "Czechia" ]     ] )
  ] ) ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [
fhir:v "http://varnomen.hgvs.org"^^xsd:anyURI ;
fhir:l <http://varnomen.hgvs.org>       ]     ] [
fhir:system [
fhir:v "https://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ;
fhir:l <https://www.ncbi.nlm.nih.gov/clinvar>       ]     ] [
fhir:system [
fhir:v "https://www.omim.org"^^xsd:anyURI ;
fhir:l <https://www.omim.org>       ]     ] )
  ] . #